SNP Links for Gene (Select 84075) - SNP

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Select item 14900433871.

rs1490043387 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:44508041 (GRCh38)
14:44977245 (GRCh37)
Canonical SPDI:: NC_000014.9:44508041::C
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
HGVS:: NC_000014.9:g.44508041_44508042insC, NC_000014.8:g.44977244_44977245insC

Select item 14893460732.

rs1489346073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 14:44504845 (GRCh38)
14:44974048 (GRCh37)
Canonical SPDI:: NC_000014.9:44504844:C:A
Gene:: FSCB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44504845C>A, NC_000014.8:g.44974048C>A, NM_032135.4:c.2143G>T, NM_032135.3:c.2143G>T, NP_115511.3:p.Asp715Tyr

Select item 14888240143.

rs1488824014 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:44506827 (GRCh38)
14:44976030 (GRCh37)
Canonical SPDI:: NC_000014.9:44506826:T:G
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44506827T>G, NC_000014.8:g.44976030T>G, NM_032135.4:c.161A>C, NM_032135.3:c.161A>C, NP_115511.3:p.Glu54Ala

Select item 14885052584.

rs1488505258 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44507739 (GRCh38)
14:44976942 (GRCh37)
Canonical SPDI:: NC_000014.9:44507738:A:G
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.44507739A>G, NC_000014.8:g.44976942A>G

Select item 14883675575.

rs1488367557 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:44504350 (GRCh38)
14:44973553 (GRCh37)
Canonical SPDI:: NC_000014.9:44504349:G:A
Gene:: FSCB (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44504350G>A, NC_000014.8:g.44973553G>A, NM_032135.4:c.*160C>T, NM_032135.3:c.*160C>T

Select item 14878723366.

rs1487872336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:44508614 (GRCh38)
14:44977817 (GRCh37)
Canonical SPDI:: NC_000014.9:44508613:C:A,NC_000014.9:44508613:C:T
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000014.9:g.44508614C>A, NC_000014.9:g.44508614C>T, NC_000014.8:g.44977817C>A, NC_000014.8:g.44977817C>T

Select item 14866033107.

rs1486603310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:44505224 (GRCh38)
14:44974427 (GRCh37)
Canonical SPDI:: NC_000014.9:44505223:C:T
Gene:: FSCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000071/1 (TOMMO)
HGVS:: NC_000014.9:g.44505224C>T, NC_000014.8:g.44974427C>T, NM_032135.4:c.1764G>A, NM_032135.3:c.1764G>A

Select item 14854362448.

rs1485436244 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:44508440 (GRCh38)
14:44977643 (GRCh37)
Canonical SPDI:: NC_000014.9:44508439:T:C
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.44508440T>C, NC_000014.8:g.44977643T>C

Select item 14847955299.

rs1484795529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44506560 (GRCh38)
14:44975763 (GRCh37)
Canonical SPDI:: NC_000014.9:44506559:A:G
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.44506560A>G, NC_000014.8:g.44975763A>G, NM_032135.4:c.428T>C, NM_032135.3:c.428T>C, NP_115511.3:p.Met143Thr

Select item 148450599510.

rs1484505995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:44506839 (GRCh38)
14:44976042 (GRCh37)
Canonical SPDI:: NC_000014.9:44506838:C:A,NC_000014.9:44506838:C:T
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/1 (ExAC)
HGVS:: NC_000014.9:g.44506839C>A, NC_000014.9:g.44506839C>T, NC_000014.8:g.44976042C>A, NC_000014.8:g.44976042C>T, NM_032135.4:c.149G>T, NM_032135.4:c.149G>A, NM_032135.3:c.149G>T, NM_032135.3:c.149G>A, NP_115511.3:p.Arg50Ile, NP_115511.3:p.Arg50Lys

Select item 148407299211.

rs1484072992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:44507840 (GRCh38)
14:44977043 (GRCh37)
Canonical SPDI:: NC_000014.9:44507839:C:T
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44507840C>T, NC_000014.8:g.44977043C>T

Select item 148384997412.

rs1483849974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:44507836 (GRCh38)
14:44977039 (GRCh37)
Canonical SPDI:: NC_000014.9:44507835:G:C
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000014.9:g.44507836G>C, NC_000014.8:g.44977039G>C

Select item 148379839013.

rs1483798390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:44508802 (GRCh38)
14:44978005 (GRCh37)
Canonical SPDI:: NC_000014.9:44508801:T:C
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44508802T>C, NC_000014.8:g.44978005T>C

Select item 148346010814.

rs1483460108 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 14:44506658 (GRCh38)
14:44975861 (GRCh37)
Canonical SPDI:: NC_000014.9:44506655:CTCTCT:CT,NC_000014.9:44506655:CTCTCT:CTCT
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44506656CT[1], NC_000014.9:g.44506656CT[2], NC_000014.8:g.44975859CT[1], NC_000014.8:g.44975859CT[2], NM_032135.4:c.329_332del, NM_032135.4:c.331_332del, NM_032135.3:c.329_332del, NM_032135.3:c.331_332del, NP_115511.3:p.Glu110fs, NP_115511.3:p.Ser111fs

Select item 148322117815.

rs1483221178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:44505541 (GRCh38)
14:44974744 (GRCh37)
Canonical SPDI:: NC_000014.9:44505540:G:A
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44505541G>A, NC_000014.8:g.44974744G>A, NM_032135.4:c.1447C>T, NM_032135.3:c.1447C>T, NP_115511.3:p.Pro483Ser

Select item 148284879316.

rs1482848793 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44505335 (GRCh38)
14:44974538 (GRCh37)
Canonical SPDI:: NC_000014.9:44505334:A:G
Gene:: FSCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.44505335A>G, NC_000014.8:g.44974538A>G, NM_032135.4:c.1653T>C, NM_032135.3:c.1653T>C

Select item 148097312517.

rs1480973125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:44505332 (GRCh38)
14:44974535 (GRCh37)
Canonical SPDI:: NC_000014.9:44505331:T:C
Gene:: FSCB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.44505332T>C, NC_000014.8:g.44974535T>C, NM_032135.4:c.1656A>G, NM_032135.3:c.1656A>G

Select item 148046127718.

rs1480461277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:44508786 (GRCh38)
14:44977989 (GRCh37)
Canonical SPDI:: NC_000014.9:44508785:A:G
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.44508786A>G, NC_000014.8:g.44977989A>G

Select item 147991595019.

rs1479915950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 14:44507882 (GRCh38)
14:44977085 (GRCh37)
Canonical SPDI:: NC_000014.9:44507881:C:A,NC_000014.9:44507881:C:T
Gene:: FSCB (Varview), LOC105370473 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00021/4 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000014.9:g.44507882C>A, NC_000014.9:g.44507882C>T, NC_000014.8:g.44977085C>A, NC_000014.8:g.44977085C>T

Select item 147972361720.

rs1479723617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:44503960 (GRCh38)
14:44973163 (GRCh37)
Canonical SPDI:: NC_000014.9:44503959:G:C
Gene:: FSCB (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.44503960G>C, NC_000014.8:g.44973163G>C

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